Y90H (p.Tyr90His) variant of AIRE (Autoimmune regulator)
Y90H (p.Tyr90His) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
Y90H (p.Tyr90His) variant details
- p.Tyr90His
- rs1555871902
- ClinGen CA410423480
- ClinVar RCV000515130
- Ensembl rs1555871902
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.88
- MetaLR 0.94
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic (in APS1)
- UniProt: Likely pathogenic (in APS1)
- Structural context available